Canonical Allele Identifier: CA2578618055

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039684G>C , CM000668.2:g.32039684G>C	GRCh38
NC_000006.11:g.32007461G>C , CM000668.1:g.32007461G>C	GRCh37
NC_000006.10:g.32115440G>C	NCBI36
NG_007941.2:g.6377G>C
NG_008337.2:g.74691C>G
NG_007941.3:g.6380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+37G>C MANE Select	ENSP00000496625.1:n.651+37G>C
ENST00000418967.6:c.651+37G>C	ENSP00000408860.2:n.651+37G>C
ENST00000435122.3:c.561+37G>C	ENSP00000415043.2:n.561+37G>C
ENST00000462278.1:n.276G>C
ENST00000464325.5:n.572+37G>C
ENST00000466779.5:c.*343+37G>C	ENSP00000417321.1:n.*343+37G>C
ENST00000466879.5:n.702+37G>C
ENST00000479074.5:n.709+37G>C
ENST00000479730.5:n.767+37G>C
ENST00000483041.5:n.820+37G>C
ENST00000486063.5:n.831+37G>C
NM_000500.7:c.651+37G>C	NP_000491.4:n.651+37G>C
NM_001128590.3:c.561+37G>C	NP_001122062.3:n.561+37G>C
XM_011514314.1:c.246+37G>C	XP_011512616.1:n.246+37G>C
NM_000500.9:c.651+37G>C MANE Select	NP_000491.4:n.651+37G>C
NM_001368143.1:c.246+37G>C	NP_001355072.1:n.246+37G>C
NM_001368144.1:c.246+37G>C	NP_001355073.1:n.246+37G>C
NM_001128590.4:c.561+37G>C	NP_001122062.3:n.561+37G>C
NM_001368143.2:c.246+37G>C	NP_001355072.1:n.246+37G>C
NM_001368144.2:c.246+37G>C	NP_001355073.1:n.246+37G>C